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Frontotemporal dementia with motor neuron disease

ORPHA:275872 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(3)

  • Abnormal lower motor neuron morphologyHP:0002366
  • Abnormal upper motor neuron morphologyHP:0002127
  • Frontotemporal dementiaHP:0002145

Frequent (79-30%)(20)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • ApathyHP:0000741
  • ApraxiaHP:0002186
  • Atypical behaviorHP:0000708
  • Degeneration of the lateral corticospinal tractsHP:0002314
  • DepressionHP:0000716
  • Distal muscle weaknessHP:0002460
  • DysarthriaHP:0001260
  • DyscalculiaHP:0002442
  • DysphagiaHP:0002015
  • Generalized amyotrophyHP:0003700
  • GliosisHP:0002171
  • HallucinationsHP:0000738
  • Neuronal loss in the cerebral cortexHP:0007190
  • ParaparesisHP:0002385
  • ParkinsonismHP:0001300
  • Progressive cerebellar ataxiaHP:0002073
  • Proximal muscle weaknessHP:0003701
  • TetraparesisHP:0002273
  • Weakness due to upper motor neuron dysfunctionHP:0010549

Occasional (29-5%)(11)

  • Abnormal mitochondrial morphologyHP:0008322
  • Babinski signHP:0003487
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Bulbar palsyHP:0001283
  • DisinhibitionHP:0000734
  • FasciculationsHP:0002380
  • Global brain atrophyHP:0002283
  • HyporeflexiaHP:0001265
  • MutismHP:0002300
  • Perseverative thoughtHP:0030223
  • Supranuclear gaze palsyHP:0000605

Very rare (<4-1%)(1)

  • PtosisHP:0000508